Gene Gene information from NCBI Gene database.
Entrez ID 84722
Gene name Proline and serine rich coiled-coil 1
Gene symbol PSRC1
Synonyms (NCBI Gene)
DDA3FP3214
Chromosome 1
Chromosome location 1p13.3
Summary This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alte
miRNA miRNA information provided by mirtarbase database.
108
miRTarBase ID miRNA Experiments Reference
MIRT016342 hsa-miR-193b-3p Microarray 20304954
MIRT024463 hsa-miR-215-5p Microarray 19074876
MIRT026297 hsa-miR-192-5p Microarray 19074876
MIRT044740 hsa-miR-320a CLASH 23622248
MIRT1271160 hsa-miR-1182 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IBA
GO:0000922 Component Spindle pole IDA 18411309
GO:0000922 Component Spindle pole IEA
GO:0001578 Process Microtubule bundle formation IEA
GO:0001578 Process Microtubule bundle formation ISS 12427559
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613126 24472 ENSG00000134222
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PGN9
Protein name Proline/serine-rich coiled-coil protein 1
Protein function Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate, and for normal rate of chromosomal segregation during anaphase. Plays a role in the regulation of mitotic spindle dynamics. Incr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15259 GTSE1_N 8 118 G-2 and S-phase expressed 1 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues, with highest expression in the adult brain and fetal thymus. Not detected in adult skeletal muscle. {ECO:0000269|PubMed:12427559}.
Sequence
MEDLEEDVRFIVDETLDFGGLSPSDSREEEDITVLVTPEKPLRRGLSHRSDPNAVAPAPQ
GVRLSLGPLSPEKLEEILDEANRLAAQLEQCALQDRESAGEGLGPRRVKPSPRRETFV
LK
DSPVRDLLPTVNSLTRSTPSPSSLTPRLRSNDRKGSVRALRATSGKRPSNMKRESPTCNL
FPASKSPASSPLTRSTPPVRGRAGPSGRAAASEETRAAKLRVSGSGEFVGLTLKFLHPSP
PGPPTPIRSVLAPQPSTSNSQRLPRPQGAAAKSSSQLPIPSAIPRPASRMPLTSRSVPPG
RGALPPDSLSTRKGLPRPSTAGHRVRESGHKVPVSQRLNLPVMGATRSNLQPPRKVAVPG
PTR
Sequence length 363
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acute Coronary Syndrome Associate 25969834
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Associate 23535823, 37893562
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 22380622
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Associate 25969834
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Associate 32238911
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 26070530
★☆☆☆☆
Found in Text Mining only
Calcinosis Associate 24725463
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 22065898
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Associate 18979498, 24725463
★☆☆☆☆
Found in Text Mining only
Carotid Artery Diseases Associate 19951432
★☆☆☆☆
Found in Text Mining only